Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSNK2A2_chr16_58152907_58203106	58155747	GGGTGTGT others(6): Show GGGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	400	0.0025	-13	c.26 others(24): Show c.2611_*2623delACACACACACACC	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		2159		chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88414270	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18970.hp1 NA18979.hp2 others(1): Show NA18965.hp2 NA18970.hp1 NA18979.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0367 a0001c0001t0002g0368 others(1): Show a0001c0001t0001g0181 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369	4	386	0.0104	-13	c.-27 others(34): Show c.-270-50799_-270-50787delTTTTTTTTTTTTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88437689	TACTGTCA others(6): Show TACTGTCATTAAGG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00544.hp2 others(98): Show HG00280.hp1 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02300.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA19000.hp1 NA19003.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp2 NA19075.hp1 NA19081.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0011 a0013 a0020 a0021	a0001c0001 a0001c0004 a0002c0006 others(6): Show a0001c0001 a0001c0004 a0002c0006 a0003c0003 a0005c0007 a0011c0013 a0013c0027 a0020c0018 a0021c0021	a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0002 a0002c0006t0001 a0002c0006t0002 a0003c0003t0002 a0005c0007t0002 a0011c0013t0002 a0013c0027t0001 a0020c0018t0002 a0021c0021t0002	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(98): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0117 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0002g0251 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0002g0328 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0002g0374 a0001c0001t0002g0376 a0001c0001t0002g0382 a0001c0004t0002g0380 a0001c0004t0002g0381 a0002c0006t0001g0003 a0002c0006t0001g0028 a0002c0006t0001g0128 a0002c0006t0001g0133 a0002c0006t0001g0139 a0002c0006t0001g0176 a0002c0006t0001g0246 a0002c0006t0002g0377 a0002c0006t0002g0378 a0002c0006t0002g0379 a0003c0003t0002g0341 a0005c0007t0002g0288 a0005c0007t0002g0306 a0005c0007t0002g0320 a0005c0007t0002g0322 a0005c0007t0002g0324 a0005c0007t0002g0325 a0005c0007t0002g0335 a0011c0013t0002g0279 a0011c0013t0002g0334 a0013c0027t0001g0132 a0020c0018t0002g0344 a0021c0021t0002g0292	101	386	0.2617	-13	c.-27 others(34): Show c.-270-27394_-270-27382delTCATTAAGGACTG	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446062	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0076 a0003c0003t0001g0076	1	386	0.0026	-13	c.-27 others(34): Show c.-270-19023_-270-19011delTCTTTCTTTCTTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88446086	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0078 a0003c0003t0001g0078	1	386	0.0026	-13	c.-27 others(34): Show c.-270-18998_-270-18986delCTTTCTTTCTTTT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPG4_chr15_75669322_75717848	75691143	CAGCCTGG others(6): Show CAGCCTGGGCAGCA	C C	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0001 a0022c0041t0001	a0022c0041t0001g0132 a0022c0041t0001g0132	1	374	0.0027	-13	c.253 others(28): Show c.253-344_253-332delTGCTGCCCAGGCT	CSPG4	ENSG00000173546.7	transcript	ENST00000308508.5	protein_coding	2/9			chr15	TogoVar
CSPG5_chr3_47557238_47583865	47562460	ACATAAAA others(6): Show ACATAAAAGCATGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0116 a0002c0002t0006g0116	1	362	0.0028	-13	c.12 others(22): Show c.127_*139delGCATGCTTTTATG	CSPG5	ENSG00000114646.10	transcript	ENST00000264723.9	protein_coding	5/5	127		chr3	TogoVar
CSRNP2_chr12_51056205_51088596	51072562	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	420	0.0024	-13	c.411 others(30): Show c.411+1248_411+1260delTTTTTTTTTTTTT	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	3/4			chr12	TogoVar
CSRNP2_chr12_51056205_51088596	51083476	CAGGGCGG others(6): Show CAGGGCGGGGAGGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0292 a0001c0001t0029g0292	1	420	0.0024	-13	c.-23 others(22): Show c.-237_-225delCCCTCCCCGCCCT	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	1/5	6916		chr12	TogoVar
CSRP1_chr1_201478530_201512123	201497358	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18978.hp2 NA18960.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	2	432	0.0046	-13	c.-1- others(28): Show c.-1-1067_-1-1055delTTTTTTTTTTTTT	CSRP1	ENSG00000159176.14	transcript	ENST00000340006.7	protein_coding	1/5			chr1	TogoVar
CST3_chr20_23628657_23642955	23636600	GCTCACGT others(6): Show GCTCACGTGTGGCC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	420	0.0024	-13	c.243 others(30): Show c.243+1007_243+1019delGGCCACACGTGAG	CST3	ENSG00000101439.9	transcript	ENST00000376925.8	protein_coding	1/2			chr20	TogoVar
CST8_chr20_23486117_23501010	23490246	TAATATAT others(6): Show TAATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	440	0.0023	-13	c.-12 others(24): Show c.-1239_-1227delAATATATATATAA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		870		chr20	TogoVar
CST8_chr20_23486117_23501010	23490409	TTATATAT others(6): Show TTATATATAAATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	-13	c.-10 others(24): Show c.-1076_-1064delTATATATAAATTA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		707		chr20	TogoVar
CST9L_chr20_23559732_23573484	23561095	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	392	0.0026	-13	c.38 others(24): Show c.3840_*3852delAGAAAGAAAGAAA	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3636		chr20	TogoVar
CST9L_chr20_23559732_23573484	23563913	CCTTATTG others(6): Show CCTTATTGACATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	392	0.0026	-13	c.10 others(24): Show c.1022_*1034delTGATGTCAATAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		818		chr20	TogoVar
CSTB_chr21_43768950_43781308	43773550	GCTCCATG others(6): Show GCTCCATGGGAAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02486.hp2 NA20300.hp2 HG02145.hp2 HG02486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	3	452	0.0066	-13	c.63 others(22): Show c.639_*651delGCTTCCCATGGAG	CSTB	ENSG00000160213.10	transcript	ENST00000291568.7	protein_coding		399		chr21	TogoVar
CSTF3_chr11_33079584_33166480	33163917	ATATATAT others(6): Show ATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	360	0.0028	-13	c.-26 others(24): Show c.-2605_-2593delAAAAATATATATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2438		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163925	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG04115.hp1 NA19006.hp2 HG00609.hp2 HG04115.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0005 a0001c0001t0002g0091 a0001c0001t0002g0095	3	360	0.0083	-13	c.-26 others(24): Show c.-2613_-2601delAAAAAAAAAAAAA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2446		chr11	TogoVar
CSTPP1_chr11_46931761_47167247	47106795	TAACCAAG others(6): Show TAACCAAGACTAGG	T T	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	224	0.0045	-13	c.281 others(32): Show c.281-30847_281-30835delCCAAGACTAGGAA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CS_chr12_56266699_56305330	56287479	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02970.hp1 HG02451.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0185 a0001c0001t0001g0144 a0001c0001t0001g0185	2	316	0.0063	-13	c.43- others(26): Show c.43-847_43-835delTTTTTTTTTTTTT	CS	ENSG00000062485.19	transcript	ENST00000351328.8	protein_coding	1/10			chr12	TogoVar
CT45A10_chrX_135876065_135898444	135888581	GGAGCCCC others(6): Show GGAGCCCCCAACAA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0081 a0003c0003t0001g0081	1	258	0.0039	-13	c.-6- others(28): Show c.-6-3244_-6-3232delTTGTTGGGGGCTC	CT45A10	ENSG00000269586.8	transcript	ENST00000682849.1	protein_coding	1/4			chrX	TogoVar
CT45A2_chrX_135806668_135825012	135818312	CTGTTCAT others(6): Show CTGTTCATCTACAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	22	0.0455	-13	c.-7+ others(28): Show c.-7+1449_-7+1461delTTGTAGATGAACA	CT45A2	ENSG00000271449.8	transcript	ENST00000612907.2	protein_coding	1/4			chrX	TogoVar
CT45A6_chrX_135789685_135807787	135796477	GAAAAGAA others(6): Show GAAAAGAAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0023 a0004c0006t0003g0023	1	36	0.0278	-13	c.418 others(28): Show c.418+165_418+177delTTCTTTTTCTTTT	CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding	3/4			chrX	TogoVar
CT55_chrX_135151540_135176398	135166036	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0113 a0002c0003t0001g0113	1	270	0.0037	-13	c.279 others(30): Show c.279+3545_279+3557delTTTTTTTTTTTTT	CT55	ENSG00000169551.13	transcript	ENST00000276241.11	protein_coding	2/5			chrX	TogoVar
CTAG1A_chrX_154580133_154591816	154582758	AGGTAGTC others(6): Show AGGTAGTCCTTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0030 a0004c0015t0001g0030	1	293	0.0034	-13	c.-24 others(24): Show c.-2448_-2436delGGTAGTCCTTTAT	CTAG1A	ENSG00000268651.4	transcript	ENST00000599837.3	protein_coding		2374		chrX	TogoVar
CTBP1_chr4_1206445_1254130	1235334	AGCAGACG others(6): Show AGCAGACGCTCCCG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	422	0.0024	-13	c.162 others(30): Show c.162+2836_162+2848delCGGGAGCGTCTGC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9			chr4	TogoVar
CTBP2_chr10_124979317_125033071	125031488	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0024 a0024	a0024c0044 a0024c0044	a0024c0044t0045 a0024c0044t0045	a0024c0044t0045g0338 a0024c0044t0045g0338	1	380	0.0026	-13	c.-37 others(24): Show c.-3742_-3730delTTTTTTTTTTTTT	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding		3418		chr10	TogoVar
CTBS_chr1_84544611_84579440	84560096	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19057.hp2 NA18962.hp2 NA19057.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0002c0005t0004 a0001c0001t0003 a0002c0005t0004	a0001c0001t0003g0083 a0002c0005t0004g0110 a0001c0001t0003g0083 a0002c0005t0004g0110	2	340	0.0059	-13	c.957 others(30): Show c.957+3148_957+3160delCTTTCTTTCTTTT	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding	6/6			chr1	TogoVar
CTC1_chr17_8219815_8253056	8237665	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0175 a0001c0002t0003g0175	1	402	0.0025	-13	c.648 others(28): Show c.648-159_648-147delTTTTTTTTTTTTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	4/22			chr17	TogoVar
CTC1_chr17_8219815_8253056	8242546	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01069.hp1 others(7): Show HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01258.hp1 HG01496.hp1 HG02698.hp2 NA18967.hp2 NA19011.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0008 a0001c0003t0016 a0001c0003t0005 a0001c0003t0008 a0001c0003t0016	a0001c0003t0005g0007 a0001c0003t0005g0019 a0001c0003t0005g0110 others(3): Show a0001c0003t0005g0007 a0001c0003t0005g0019 a0001c0003t0005g0110 a0001c0003t0008g0020 a0001c0003t0008g0116 a0001c0003t0016g0101	10	402	0.0249	-13	c.197 others(28): Show c.197+426_197+438delATATATTTTTTTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	2/22			chr17	TogoVar
CTC1_chr17_8219815_8253056	8242548	AAAAAAAT others(6): Show AAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18950.hp2 NA18963.hp2 others(1): Show HG00558.hp1 NA18950.hp2 NA18963.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0013 a0001c0003t0005g0103 a0001c0003t0005g0104 a0001c0003t0005g0013 a0001c0003t0005g0103 a0001c0003t0005g0104	4	402	0.0100	-13	c.197 others(28): Show c.197+424_197+436delATATATATTTTTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	2/22			chr17	TogoVar
CTCFL_chr20_57492166_57530140	57511226	GACAGGGT others(6): Show GACAGGGTCTCATT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG02809.hp1 others(2): Show HG01891.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0060 a0001c0004t0001g0021 a0001c0004t0001g0022 a0001c0004t0001g0060	5	424	0.0118	-13	c.149 others(32): Show c.1491+1353_1491+1365delAATGAGACCCTGT	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding	8/10			chr20	TogoVar
CTCF_chr16_67557526_67644177	67604739	TTTTTTGT others(6): Show TTTTTTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 NA19240.hp1 HG03041.hp1 HG03225.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157	3	168	0.0179	-13	c.-9- others(28): Show c.-9-6079_-9-6067delGTTTTTTGTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67629746	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG04115.hp1 HG01433.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0002g0133 a0001c0001t0001g0034 a0001c0001t0002g0133	2	168	0.0119	-13	c.183 others(30): Show c.1837+247_1837+259delTTTTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67643611	ATAATAAT others(6): Show ATAATAATAATGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 others(2): Show HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01346.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 others(2): Show a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0013g0045	5	168	0.0298	-13	c.57 others(24): Show c.5740_*5752delTAATAATAATGAT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding		4435		chr16	TogoVar
CTDSPL2_chr15_44422629_44534038	44444836	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02630.hp2 others(6): Show HG02258.hp2 HG02615.hp2 HG02630.hp2 HG02886.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0010 a0001c0003t0008 a0001c0003t0010	a0001c0003t0008g0058 a0001c0003t0008g0059 a0001c0003t0008g0060 others(6): Show a0001c0003t0008g0058 a0001c0003t0008g0059 a0001c0003t0008g0060 a0001c0003t0008g0061 a0001c0003t0008g0062 a0001c0003t0008g0063 a0001c0003t0010g0055 a0001c0003t0010g0057 a0001c0003t0010g0064	9	234	0.0385	-13	c.-24 others(32): Show c.-24-14137_-24-14125delTTTTTTTTTTTTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDSPL_chr3_37856880_37989469	37960498	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01993.hp2 HG01975.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0041 a0001c0001t0002g0027 a0001c0001t0002g0041	2	166	0.0121	-13	c.267 others(30): Show c.267+3357_267+3369delAAAAAAATATATA	CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTDSPL_chr3_37856880_37989469	37964032	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp1 HG02572.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0140 a0001c0001t0007g0067 a0001c0001t0001g0140 a0001c0001t0007g0067	2	166	0.0121	-13	c.268 others(28): Show c.268-514_268-502delAAAAAAAAAAAAA	CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTHRC1_chr8_103366538_103387989	103376008	ATTTTAGT others(6): Show ATTTTAGTGTTAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp2 HG01358.hp2 others(4): Show HG00741.hp1 HG01109.hp2 HG01358.hp2 HG03139.hp1 HG03486.hp1 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035	7	408	0.0172	-13	c.372 others(26): Show c.372+56_372+68delTGTTAATTTTTAG	CTHRC1	ENSG00000164932.13	transcript	ENST00000330295.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
CTIF_chr18_48534031_48868217	48553659	CCTTTTTT others(6): Show CCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02486.hp2 others(9): Show HG01884.hp1 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02895.hp2 HG03130.hp1 HG03139.hp2 HG03516.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0001c0001t0038 a0001c0001t0046 a0001c0001t0050	a0001c0001t0002g0137 a0001c0001t0004g0134 a0001c0001t0008g0139 others(9): Show a0001c0001t0002g0137 a0001c0001t0004g0134 a0001c0001t0008g0139 a0001c0001t0008g0142 a0001c0001t0011g0133 a0001c0001t0011g0143 a0001c0001t0015g0135 a0001c0001t0019g0138 a0001c0001t0021g0141 a0001c0001t0038g0136 a0001c0001t0046g0140 a0001c0001t0050g0124	12	144	0.0833	-13	c.-29 others(32): Show c.-29+14348_-29+14360delCTTTTTTTTTTTT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	1/11			chr18	TogoVar
CTIF_chr18_48534031_48868217	48635314	TTTCTTTT others(6): Show TTTCTTTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01243.hp1 HG01884.hp2 others(10): Show HG01069.hp2 HG01243.hp1 HG01884.hp2 HG02080.hp1 HG02080.hp2 HG02735.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG04115.hp2 NA18952.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0023 a0001c0001t0037 a0001c0002t0002	a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0003g0030 a0001c0001t0003g0049 a0001c0001t0008g0139 a0001c0001t0009g0037 a0001c0001t0014g0022 a0001c0001t0023g0048 a0001c0001t0037g0039 a0001c0002t0002g0038	13	144	0.0903	-13	c.181 others(30): Show c.181-1297_181-1285delCTTTTTCTTTCTT	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48698104	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19043.hp1 NA19068.hp1 HG02896.hp2 NA19043.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0020 a0001c0001t0004 a0001c0001t0009 a0001c0001t0020	a0001c0001t0004g0026 a0001c0001t0009g0037 a0001c0001t0020g0057 a0001c0001t0004g0026 a0001c0001t0009g0037 a0001c0001t0020g0057	3	144	0.0208	-13	c.508 others(32): Show c.508-13490_508-13478delAAAAAAAAAAAAA	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTIF_chr18_48534031_48868217	48801645	TAGTAACG others(6): Show TAGTAACGCCTGTG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0132 a0001c0001t0019g0132	1	144	0.0069	-13	c.137 others(34): Show c.1372-15575_1372-15563delAGTAACGCCTGTG	CTIF	ENSG00000134030.14	transcript	ENST00000256413.8	protein_coding	9/11			chr18	TogoVar
CTLA4_chr2_203862771_203878965	203873370	ATATATAT others(6): Show ATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0001 a0002c0002t0028g0001	1	420	0.0024	-13	c.56 others(22): Show c.560_*572delATATATATATATT	CTLA4	ENSG00000163599.18	transcript	ENST00000648405.2	protein_coding	4/4	560	INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA1_chr5_138748425_138940034	138755845	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19076.hp1 NA18946.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	180	0.0111	-13	c.-3+ others(28): Show c.-3+2358_-3+2370delTTTTTTTTTTTTT	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA1_chr5_138748425_138940034	138776039	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0055 a0001c0003t0002g0055	1	180	0.0056	-13	c.-2- others(28): Show c.-2-5872_-2-5860delTTTTTTTTTTTTT	CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
CTNNA2_chr2_79508051_80653780	79664705	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01106.hp1 HG00735.hp2 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0057 a0001c0002t0002g0015 a0001c0001t0002g0057 a0001c0002t0002g0015	2	68	0.0294	-13	c.102 others(32): Show c.102+13061_102+13073delTTTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79811234	ATGGTATC others(6): Show ATGGTATCTCATTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	68	0.0147	-13	c.299 others(32): Show c.299-46774_299-46762delATCTCATTGTGGT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79817316	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02109.hp1 others(7): Show HG00735.hp1 HG01884.hp2 HG02109.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 others(7): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0004g0061 a0001c0002t0001g0034 a0001c0002t0001g0049 a0001c0002t0002g0025 a0001c0002t0003g0036	10	68	0.1471	-13	c.299 others(32): Show c.299-40683_299-40671delTTTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	79835666	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	68	0.0147	-13	c.299 others(32): Show c.299-22322_299-22310delTTTTTTTTTTTTT	CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr2	TogoVar